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  3. Subependymoma
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Subependymoma


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Other Names:
Subependymal astrocytoma (formerly)
Categories:
Nervous System Diseases; Rare Cancers

Summary Summary


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Subependymomas are slow-growing brain tumors that are usually benign. They are most often found in the fourth or lateral ventricles in the brain, but may occur in the spine.[1][2] Symptoms depend on the tumor location.[3] Some people do not have symptoms, while others may have headaches, changes in vision, and/or difficulty with balance.[2] These symptoms are thought to be due to obstruction of cerebral spinal fluid (CSF) due to the tumor's location.[2] Most subependymomas are benign with a low recurrence rate. However, a few progress to anaplastic ependymoma (a faster growing tumor).[3] The cause of subependymomas is not well understood. Surgery to remove the tumor is often curative.[2]
Last updated: 4/5/2017

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 19 |
Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Ependymoma 0002888
30%-79% of people have these symptoms
Abnormal cell morphology 0025461
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ]
0002076
Pain 0012531
5%-29% of people have these symptoms
Distal muscle weakness
Weakness of outermost muscles
0002460
Dysesthesia 0012534
Gait disturbance
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
0001288
Seizure 0001250
Spinal cord tumor
Tumor of the spinal cord
0010302
Supratentorial neoplasm 0030693
Vomiting
Throwing up
0002013
1%-4% of people have these symptoms
Neoplasm of the breast
Breast tumor
Tumours of the breast
[ more ]
0100013
Neoplasm of the liver
Liver cancer
Liver tumor
[ more ]
0002896
Neoplasm of the lung
Lung tumor
0100526
Ovarian neoplasm
Ovarian tumor
0100615
Percent of people who have these symptoms is not available through HPO
Astrocytoma 0009592
Autosomal dominant inheritance 0000006
Glioblastoma multiforme 0012174
Somatic mutation 0001428
Showing of 19 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance


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In the vast majority of cases, subependymomas develop sporadically; this means that they usually are not inherited and occur in people with no family history of brain tumors. A few familial cases have been reported.[4][5] However, to our knowledge, specific genes known to cause subependymomas have not been identified.
Last updated: 4/5/2017

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Subependymoma. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • American Brain Tumor Association
    8550 W. Bryn Mawr Ave, Ste 550
    Chicago, IL 60631
    Toll-free: 1-800-886-2282
    Telephone: +1-773-577-8750
    Fax: +1-773-577-8738
    E-mail: info@abta.org
    Website: https://www.abta.org/
  • Collaborative Ependymoma Research Network (CERN Foundation)
    P.O. Box 217
    Zionsville, IN 46077
    Telephone: 1-844-237-6674
    E-mail: administrator@cern-foundation.org
    Website: https://cern-foundation.org
  • International Brain Tumour Alliance
    10 Carrodus Street,
    Fraser, ACT, 2615
    Australia
    E-mail: chair@theibta.org
    Website: http://www.theibta.org/
  • National Brain Tumor Society
    55 Chapel St., Suite 200
    Newton, MA 02458
    Telephone: +1-617-924-9997
    Fax: +1-617-924 -9998
    E-mail: http://braintumor.org/our-mission/contact-us/
    Website: http://braintumor.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Subependymoma. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Kieran MW. Ependymoma. UpToDate. Waltham, MA: UpToDate; December, 2016;
  2. Jain A, Amin AG, Jain P, Burger P, Jallo GI, Lim M, Bettegowda C. Subependymoma: clinical features and surgical outcomes. Neurol Res. September, 2012; 34(7):677-684.
  3. Bi Z, Ren X, Zhang J, Jia W. Clinical, radiological, and pathological features in 43 cases of intracranial subependymoma. J Neurosurg. January, 2015; 122(1):49-60. https://www.ncbi.nlm.nih.gov/pubmed/25361493.
  4. Kurian KM, Jones DT, Marsden F, Openshaw SW, Pearson DM, Ichimura K, Collins VP. Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases. Brain Pathol. October, 2008; 18(4):469-473.
  5. Converse PJ. GLIOMA SUSCEPTIBILITY 1; GLM1. OMIM. March, 2017; http://omim.org/entry/137800.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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